Review
doi: 10.1136/jmg.25.10.687.
Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome
Affiliations
- PMID: 3066902
- PMCID: PMC1051563
- DOI: 10.1136/jmg.25.10.687
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Review
Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome
J Med Genet.
1988 Oct.
Abstract
A second family with the autosomal recessive disorder now referred to as the limb/pelvis-hypoplasia/aplasia syndrome is reported. It is speculated that the gene for this rare skeletal dysplasia may be confined to the Middle East gene pool. The disorder has been shown to be diagnosable prenatally in a pregnancy at risk by using ultrasonography.
Comment in
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The possible Middle East origin of the mutation for the limb/pelvis-hypoplasia/aplasia syndrome.J Med Genet. 1994 Nov;31(11):897. doi: 10.1136/jmg.31.11.897. J Med Genet. 1994. PMID: 7853380 Free PMC article. No abstract available.
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